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Hermione

Last Reviewed 13/04/2017

By swan uk member, jane heseltine

Hermione was born at 38 weeks by caesarean section. The pregnancy had been straightforward up until 34 weeks when I got diagnosed with gestational diabetes.

Hermione was born on 12 June 2007 at 8lbs 13oz. She was very floppy and blue when she was born and was taken more or less straight up to SCBU for monitoring and feeding. She was up there for 48 hours.

She failed her newborn hearing test at three days old but I wasn't too concerned. She used to cry a lot and was a nightmare to take out. I just thought I had a miserable baby as my other two had been so easy; I thought it was payback.

It wasn't until she was four months old that my health visitor suggested I go to a first-time mum's group. By coincidence, the day I decided to go my health visitor was there. Hermione was doing her usual screaming so she asked if she could hold her so I could have a cuppa. However, the health visitor asked me if I thought her head was floppy for her age. I of course said no, not really. She was concerned so decided to get me an emergency appointment at the doctor’s (never did finish the cuppa). Next minute I was at the doctor's surgery with her where the doctor took a look at her and decided she was definitely too floppy for her age and referred her to the hospital. I arrived home in tears and of course started googling floppy head ... bad idea.

Of course over the months that followed whilst waiting for a hospital appointment, my husband and I hit rock bottom. We went into hibernation with worry about our beautiful baby girl.

The appointment finally came through when she was six months old. They had to take blood samples from us all and Hermione was prodded and poked. We were asked a log of questions regarding feeding, play, babbling etc. Obviously she wasn't doing any of these things. It took her two hours to drink 4ozs of milk, she couldn't hold a rattle and didn't make any sounds.

She had numerous MRI scans all of which came back normal. All blood tests showed nothing. We felt as if we lived at the hospital. It felt as if we were seeing every department in existence. I had never seen so much of Northampton General Hospital before.

No one could tell us anything as everything was coming back normal.

Over the years Hermione has had so many appointments and general anaesthetics. I don't think we will ever get a proper diagnosis. We were put onto the DDD (Deciphering Developmental Disorders) Study and three years later in August 2015, we had a letter from the geneticist saying something had been found.

Hermione has a mutation on chromosome six. She was the fourth person in the world to be diagnosed with PPP2R5D E198K. There is no information at all so we are complete guinea pigs. There are now 31 children who have been found with this throughout the world.

Looking back and knowing what I know now, there was so many signs that everything was not as it should be, from feeding, crying and not smiling to not being able to hold a rattle. All we were told was that she had hypotonia, hearing loss, nystagmus, global developmental delay and severe learning difficulties.

We were told she would never do anything. She walked at five years old and sat independently at three years old. She is still completely non verbal.

She is such a happy and loving little girl. She does have a temper and can have meltdowns which I think is frustration due no communication. She loves school and has lots of friends especially boys.

Life with Hermione can be very tiring as she doesn't sleep well and needs 24/7 care with everyday life. We are permanently shattered but have forgotten what life was like before we had our lovely little swan.

 

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